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Definition
By Mayo Clinic staffKrabbe disease (KRAH-bay disease) is an inherited, often fatal disorder affecting the central nervous system. Krabbe disease affects about 1 in every 100,000 people in the United States.
The disease affects muscle tone and movement, and may cause vision and hearing loss, among other devastating effects. In most cases, Krabbe disease develops in babies before 6 months of age, although it can occur in older children and in adults.
There's no cure for Krabbe disease and treatment mainly involves approaches designed to ease symptoms. However, early studies using stem cell transplants to treat Krabbe disease before symptoms begin have had some success.
- Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=krabbedisease. Accessed April 15, 2009.
- Krabbe disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed April 15, 2009.
- Duffner PK. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease. Genetics in Medicine. In Press. Accessed April 15, 2009.
- Ropper AH, et al. Inherited metabolic diseases of the nervous system, In: Ropper AH, et al. Adams and Victor's Principles of Neurology. 9th ed. New York, N.Y.: McGraw-Hill Medical; 2009. http://www.accessmedicine.com/content.aspx?aID=3636356. Accessed April 15, 2009.
- Krabbe disease. United Leukodystrophy Foundation. http://www.ulf.org/types/krabbe.html. Accessed April 15, 2009.
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain and Development. In Press. Accessed April 15, 2009.
- Korn-Lubetzki I, et al. Infantile Krabbe disease. Archives of Neurology. 2003;60:1643.
- Husain AM. Krabbe disease: Neurophysiologic studies and MRI correlations. Neurology. 2004;63:617.
- Escolar ML, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. New England Journal of Medicine. 2005;352:2069.
- Duffner PK, et al. Newborn screening for Krabbe disease: The New York State model. Pediatric Neurology. 2009;40:245.
